Canonical Allele Identifier: CA2153356168

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945223_87945225delinsCTT , CM000676.2:g.87945223_87945225delinsCTT	GRCh38
NC_000014.8:g.88411567_88411569delinsCTT , CM000676.1:g.88411567_88411569delinsCTT	GRCh37
NC_000014.7:g.87481320_87481322delinsCTT	NCBI36
NG_011853.2:g.53339_53341delinsAAG
NG_011853.3:g.53339_53341delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1670+328_1670+330delinsAAG MANE Select	ENSP00000261304.2:n.1670+328_1670+330delinsAAG
ENST00000261304.6:c.1670+328_1670+330delinsAAG	ENSP00000261304.2:n.1670+328_1670+330delinsAAG
ENST00000393568.8:c.1601+328_1601+330delinsAAG	ENSP00000377198.4:n.1601+328_1601+330delinsAAG
ENST00000393569.6:c.1592+328_1592+330delinsAAG	ENSP00000377199.2:n.1592+328_1592+330delinsAAG
ENST00000544807.6:c.1502+328_1502+330delinsAAG	ENSP00000437513.2:n.1502+328_1502+330delinsAAG
ENST00000555000.5:c.1037+328_1037+330delinsAAG	ENSP00000450472.1:n.1037+328_1037+330delinsAAG
ENST00000555179.1:c.206+2503_206+2505delinsAAG
ENST00000557316.5:c.*1068+328_*1068+330delinsAAG	ENSP00000452314.1:n.*1068+328_*1068+330delinsAAG
NM_000153.3:c.1670+328_1670+330delinsAAG	NP_000144.2:n.1670+328_1670+330delinsAAG
NM_001201401.1:c.1601+328_1601+330delinsAAG	NP_001188330.1:n.1601+328_1601+330delinsAAG
NM_001201402.1:c.1592+328_1592+330delinsAAG	NP_001188331.1:n.1592+328_1592+330delinsAAG
XM_011536618.1:c.1502+328_1502+330delinsAAG	XP_011534920.1:n.1502+328_1502+330delinsAAG
XM_011536618.2:c.1502+328_1502+330delinsAAG	XP_011534920.1:n.1502+328_1502+330delinsAAG
NM_000153.4:c.1670+328_1670+330delinsAAG MANE Select	NP_000144.2:n.1670+328_1670+330delinsAAG
NM_001201401.2:c.1601+328_1601+330delinsAAG	NP_001188330.1:n.1601+328_1601+330delinsAAG
NM_001201402.2:c.1592+328_1592+330delinsAAG	NP_001188331.1:n.1592+328_1592+330delinsAAG